V Leuzzi

Summary

Country: Italy

Publications

  1. ncbi request reprint Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, Universita La Sapienza, Rome, Italy
    J Inherit Metab Dis 23:563-70. 2000
  2. ncbi request reprint The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, University of Rome La Sapienza, Rome, Italy
    J Inherit Metab Dis 30:209-16. 2007
  3. ncbi request reprint Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy
    C Carducci
    Department of Experimental Medicine, University La Sapienza, Rome, Italy
    Hum Genet 87:725-7. 1991
  4. doi request reprint Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
    Clin Genet 77:249-57. 2010
  5. ncbi request reprint Tyrosine hydroxylase deficiency presenting with a biphasic clinical course
    T Giovanniello
    Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
    Neuropediatrics 38:213-5. 2007
  6. ncbi request reprint The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Roma, Rome, Italy
    J Inherit Metab Dis 29:38-46. 2006
  7. ncbi request reprint Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency
    C Carducci
    Dipartimento di Medicina Sperimentale e Patologia, Universita degli Studi di Roma La Sapienza, Rome, Italy
    J Chromatogr B Biomed Sci Appl 755:343-8. 2001
  8. ncbi request reprint Executive function impairment in early-treated PKU subjects with normal mental development
    V Leuzzi
    Department of Child Neurology and Psychiatry, Universita La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy
    J Inherit Metab Dis 27:115-25. 2004
  9. pmc Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 60:1107-21. 1997
  10. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010

Collaborators

Detail Information

Publications10

  1. ncbi request reprint Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, Universita La Sapienza, Rome, Italy
    J Inherit Metab Dis 23:563-70. 2000
    ....
  2. ncbi request reprint The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, University of Rome La Sapienza, Rome, Italy
    J Inherit Metab Dis 30:209-16. 2007
    ..To gain insights into the nature and pathogenesis of white matter (WM) abnormalities in PKU...
  3. ncbi request reprint Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy
    C Carducci
    Department of Experimental Medicine, University La Sapienza, Rome, Italy
    Hum Genet 87:725-7. 1991
    ....
  4. doi request reprint Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
    Clin Genet 77:249-57. 2010
    ..A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd...
  5. ncbi request reprint Tyrosine hydroxylase deficiency presenting with a biphasic clinical course
    T Giovanniello
    Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
    Neuropediatrics 38:213-5. 2007
    ..He markedly improved with a very low dosage of L-DOPA/carbidopa, while higher dosages were not tolerated. Two novel mutations (p.G414R/p.L510Q) were detected in the TH gene...
  6. ncbi request reprint The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Roma, Rome, Italy
    J Inherit Metab Dis 29:38-46. 2006
    ..Two new mutations, Y387X and G352C, were identified (the former was BH(4)-responsive), and the responsiveness of three already reported mutations (R261Q, D338Y, T92I) was substantiated...
  7. ncbi request reprint Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency
    C Carducci
    Dipartimento di Medicina Sperimentale e Patologia, Universita degli Studi di Roma La Sapienza, Rome, Italy
    J Chromatogr B Biomed Sci Appl 755:343-8. 2001
    ..GAA concentration was found to be nearly 12-fold higher than the mean control value. We propose this method as an inexpensive and widely applicable tool for the diagnosis of GAMT deficiency...
  8. ncbi request reprint Executive function impairment in early-treated PKU subjects with normal mental development
    V Leuzzi
    Department of Child Neurology and Psychiatry, Universita La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy
    J Inherit Metab Dis 27:115-25. 2004
    ....
  9. pmc Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 60:1107-21. 1997
    ..This finding suggests that one ancient combination of haplogroup J-specific mutations increases both the penetrance of the two primary mutations 11778 and 14484 and the risk of disease expression...
  10. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...